title: Myoclonic epilepsy in a child with 17q22-q23.1 deletion.
abstract: Interstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22-q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical phenotype of epilepsy characterized by myoclonic atonic and absence seizures in a 6-year-old boy carrying a de novo 17q22q23 deletion detected by oligonucleotide array comparative genomic hybridization (aCGH).
authors.affiliation: Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
authors.forename: Anna
authors.initials: A
authors.lastname: Tostevin
authors.forename: Amy
authors.initials: A
authors.lastname: McTague
authors.forename: Ronit M
authors.initials: RM
authors.lastname: Pressler
authors.forename: J Helen
authors.initials: JH
authors.lastname: Cross
authors.forename: Sanjay M
authors.initials: SM
authors.lastname: Sisodiya
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype
keywords: 17q22-q23.3 deletion; array-CGH; myoclonic epilepsy